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What are the signs and symptoms of Microcephalic osteodysplastic primordial dwarfism type 1?

Individuals with MOPD1 may have low birth weight, growth retardation, short limbs, broad hands, small head size (microcephaly), abnormal bone growth (skeletal dysplasia) and a distinct facial appearance. Facial characteristics may include a sloping forehead; protruding eyes; prominent nose with a flat nasal bridge; and small jaw (micrognathia).[1][2] In addition, babies with MOPD1 may experience short episodes of stopped breathing (apnea) and seizures.[1] Affected individuals also commonly have sparse hair and eyebrows; dry skin; dislocation of the hips or elbows; and intellectual disability.[2] Brain abnormalities that have been reported include lissencephaly, hypoplastic (underdeveloped) frontal lobes, and agenesis of the corpus callosum or cerebellar vermis (the nerve tissue that connects the two halves of the cerebellum).[2]

The Human Phenotype Ontology provides the following list of signs and symptoms for Microcephalic osteodysplastic primordial dwarfism type 1.
If the information is available, the table below includes how often the symptom is seen in people with this condition.
You can use the MedlinePlus Medical Dictionary to look up
the definitions for these medical terms.

Signs and Symptoms

Approximate number of patients (when available)

Abnormal form of the vertebral bodies

90%

Abnormal hair quantity

90%

Abnormal nasal morphology

90%

Abnormal vertebral ossification

90%

Abnormality of calcium-phosphate metabolism

90%

Abnormality of pelvic girdle bone morphology

90%

Abnormality of the clavicle

90%

Abnormality of the distal phalanx of finger

90%

Abnormality of the eyelashes

90%

Abnormality of the femur

90%

Abnormality of the intervertebral disk

90%

Abnormality of the metacarpal bones

90%

Abnormality of the metaphyses

90%

Abnormality of the upper urinary tract

90%

Aplasia/Hypoplasia of the eyebrow

90%

Brachydactyly syndrome

90%

Cognitive impairment

90%

Convex nasal ridge

90%

Delayed skeletal maturation

90%

Glaucoma

90%

Hypertonia

90%

Intrauterine growth retardation

90%

Large hands

90%

Low-set, posteriorly rotated ears

90%

Micrognathia

90%

Micromelia

90%

Premature birth

90%

Prominent occiput

90%

Proptosis

90%

Reduced bone mineral density

90%

Respiratory insufficiency

90%

Seizures

90%

Short neck

90%

Short stature

90%

Single transverse palmar crease

90%

Abnormality of the tragus

50%

Cheekbone underdevelopment

50%

Cleft palate

50%

Clinodactyly of the 5th finger

50%

Cryptorchidism

50%

Dolichocephaly

50%

Sloping forehead

50%

Thick lower lip vermilion

50%

Thickened nuchal skin fold

50%

11 pairs of ribs

-

Abnormality of the pinna

-

Absent knee epiphyses

-

Agenesis of cerebellar vermis

-

Agenesis of corpus callosum

-

Autosomal recessive inheritance

-

Bowed humerus

-

Brachydactyly syndrome

-

Cleft vertebral arch

-

Coarctation of aorta

-

Cryptorchidism

-

Defect in the atrial septum

-

Delayed skeletal maturation

-

Disproportionate short stature

-

Dry skin

-

Elbow dislocation

-

Elbow flexion contracture

-

Enlarged metaphyses

-

Failure to thrive

-

Femoral bowing

-

Heterotopia

-

Hip contracture

-

Hip dislocation

-

Hyperkeratosis

-

Hypoplasia of the frontal lobes

-

Hypoplastic ilia

-

Intellectual disability

-

Intrauterine growth retardation

-

Knee flexion contracture

-

Large hands

-

Long clavicles

-

Long foot

-

Low-set ears

-

Micrognathia

-

Micromelia

-

Micropenis

-

Microtia

-

Oligohydramnios

-

Pachygyria

-

Platyspondyly

-

Prolonged neonatal jaundice

-

Prominent nose

-

Prominent occiput

-

Proptosis

-

Renal cyst

-

Renal hypoplasia

-

Seizures

-

Short humerus

-

Short metacarpal

-

Short neck

-

Shoulder flexion contracture

-

Single transverse palmar crease

-

Sloping forehead

-

Small anterior fontanelle

-

Sparse eyebrow

-

Sparse eyelashes

-

Sparse scalp hair

-

Stillbirth

-

Tetralogy of Fallot

-

Last updated: 3/1/2015

The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature.

The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined.

Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.